ClinVar Miner

Submissions for variant NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)

dbSNP: rs1954619848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202966 SCV001374102 uncertain significance Charcot-Marie-Tooth disease axonal type 2L 2019-10-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HSPB8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine with cysteine at codon 15 of the HSPB8 protein (p.Arg15Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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